| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (non-coding transcript variant) | RNU5A-1-associated neurodevelopmental disorder | |
| | | Insertion (non-coding transcript variant) | RNU5A-1-associated neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Nemaline myopathy 6 | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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